The cousins, who were ascertained through exome analysis and autozygosity mapping of patients with various multiple anomalies and were born to highly consanguineous parents, had a homozygous nonsynonymous variant p.Arg225Cys in CDK9. It remains unclear whether the homozygosity of that variant contributed to the CHARGE syndrome-like phenotype or the association occurred by chance. The gene discussed is CDK9; the disease is CHARGE syndrome.